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Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles
Movement Disorders ( IF 8.6 ) Pub Date : 2021-09-18 , DOI: 10.1002/mds.28789
Erin I. McDonnell 1 , Yuanjia Wang 1, 2 , Jill Goldman 3 , Karen Marder 2, 3, 4, 5
Affiliation  

Age of manifest Huntington's disease (HD) onset correlates with number of CAG repeats in the huntingtin gene. Little is known about onset with 36 to 39 repeats, the “reduced penetrance” (RP) range.

中文翻译:

外显率降低等位基因携带者中亨廷顿病的发病年龄

明显亨廷顿舞蹈病 (HD) 的发病年龄与亨廷顿基因中 CAG 重复的数量相关。对于 36 到 39 次重复的起始,“外显率降低”(RP)范围知之甚少。
更新日期:2021-09-18
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